Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

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Version: author
Serval ID
serval:BIB_DCEC597C1254
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Journal
Nephron. Physiology
Author(s)
Jaureguiberry G., De la Dure-Molla M., Parry D., Quentric M., Himmerkus N., Koike T., Poulter J., Klootwijk E., Robinette S.L., Howie A.J., Patel V., Figueres M.L., Stanescu H.C., Issler N., Nicholson J.K., Bockenhauer D., Laing C., Walsh S.B., McCredie D.A., Povey S., Asselin A., Picard A., Coulomb A., Medlar A.J., Bailleul-Forestier I., Verloes A., Le Caignec C., Roussey G., Guiol J., Isidor B., Logan C., Shore R., Johnson C., Inglehearn C., Al-Bahlani S., Schmittbuhl M., Clauss F., Huckert M., Laugel V., Ginglinger E., Pajarola S., Spartà G., Bartholdi D., Rauch A., Addor M.C., Yamaguti P.M., Safatle H.P., Acevedo A.C., Martelli-Júnior H., dos Santos Netos P.E., Coletta R.D., Gruessel S., Sandmann C., Ruehmann D., Langman C.B., Scheinman S.J., Ozdemir-Ozenen D., Hart T.C., Hart P.S., Neugebauer U., Schlatter E., Houillier P., Gahl W.A., Vikkula M., Bloch-Zupan A., Bleich M., Kitagawa H., Unwin R.J., Mighell A., Berdal A., Kleta R.
ISSN
1660-2137 (Electronic)
ISSN-L
1660-2110
Publication state
Published
Issued date
2012
Volume
122
Number
1-2
Pages
1-6
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Abstract
BACKGROUND/AIMS: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood.
METHODS: We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing.
RESULTS: All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified.
CONCLUSIONS: This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis.
Keywords
Adolescent, Adult, Amelogenesis Imperfecta/complications, Amelogenesis Imperfecta/genetics, Child, Consanguinity, Dental Enamel Proteins/genetics, Exome/genetics, Family Health, Female, Genes, Recessive/genetics, Genetic Predisposition to Disease/genetics, Genome-Wide Association Study, Humans, Male, Middle Aged, Mutation, Nephrocalcinosis/complications, Nephrocalcinosis/genetics, Pedigree, Sequence Analysis, DNA/methods, Syndrome, Young Adult
Pubmed
Web of science
Open Access
Yes
Create date
16/01/2014 9:37
Last modification date
20/08/2019 16:01
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